ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335060 SCV002640289 uncertain significance Cardiovascular phenotype 2019-06-06 criteria provided, single submitter clinical testing The p.T1550S variant (also known as c.4648A>T), located in coding exon 23 of the DSP gene, results from an A to T substitution at nucleotide position 4648. The threonine at codon 1550 is replaced by serine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096405 SCV003459417 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-12-04 criteria provided, single submitter clinical testing

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